<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "Frontotemporal dementia and its subtypes: a genome-wide association study"^^ . "SummaryBackground Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes—MAPT, GRN, and C9orf72—have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with {FTD} and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with {FTD} and 4308 controls), we did separate association analyses for each {FTD} subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and {FTD} overlapping with motor neuron disease FTD-MND), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p<5 × 10−8) single-nucleotide polymorphisms. Findings We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10−8). Combined (joint) analyses of discovery and replication phases showed genome-wide significant association at 6p21.3, \\{HLA\\} locus (immune system), for rs9268877 (p=1·05 × 10−8; odds ratio=1·204 95% \\{CI\\} 1·11–1·30), rs9268856 (p=5·51 × 10−9; 0·809 0·76–0·86) and rs1980493 (p value=1·57 × 10−8, 0·775 0·69–0·86) in the entire cohort. We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural \\{FTD\\} subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10−7; 0·814 0·71–0·92). Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation in cis. Interpretation Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and to shed light on the pathomechanisms contributing to FTD. Funding The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/MRC Centre on Parkinson's disease, Alzheimer's Research UK, and Texas Tech University Health Sciences Center."^^ . "2014" . . "13" . "7" . . "Elsevier"^^ . . . "The Lancet Neurology"^^ . . . "14744422" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "Alexis"^^ . "Brice"^^ . "Alexis Brice"^^ . . "Bernd"^^ . "Ibach"^^ . "Bernd Ibach"^^ . . "Jonathan D"^^ . "Rohrer"^^ . "Jonathan D Rohrer"^^ . . "Marc"^^ . "Cruts"^^ . "Marc Cruts"^^ . . "John"^^ . "Hardy"^^ . "John Hardy"^^ . . "Graziella"^^ . "Milan"^^ . "Graziella Milan"^^ . . "Cristina"^^ . "Razquin"^^ . "Cristina Razquin"^^ . . "Elio"^^ . "Scarpini"^^ . "Elio Scarpini"^^ . . "Chiara"^^ . "Fenoglio"^^ . "Chiara Fenoglio"^^ . . "Martin N"^^ . "Rossor"^^ . "Martin N Rossor"^^ . . "John B J"^^ . "Kwok"^^ . "John B J Kwok"^^ . . "Pietro"^^ . "Pietrini"^^ . "Pietro Pietrini"^^ . . "Panagiotis"^^ . "Alexopoulos"^^ . "Panagiotis Alexopoulos"^^ . . "John R"^^ . "Hodges"^^ . "John R Hodges"^^ . . "Jørgen E"^^ . "Nielsen"^^ . "Jørgen E Nielsen"^^ . . "William S"^^ . "Brooks"^^ . "William S Brooks"^^ . . "Gianluigi"^^ . "Forloni"^^ . "Gianluigi Forloni"^^ . . "Vivianna M Van"^^ . "Deerlin"^^ . "Vivianna M Van Deerlin"^^ . . "Ging-Yuek R"^^ . "Hsiung"^^ . "Ging-Yuek R Hsiung"^^ . . "Alessandro"^^ . "Padovani"^^ . "Alessandro Padovani"^^ . . "Matthias"^^ . "Riemenschneider"^^ . "Matthias Riemenschneider"^^ . . "Wei"^^ . "Gu"^^ . "Wei Gu"^^ . . "Ian G"^^ . "McKeith"^^ . "Ian G McKeith"^^ . . "Luisa"^^ . "Benussi"^^ . "Luisa Benussi"^^ . . "Peter"^^ . "Heutink"^^ . "Peter Heutink"^^ . . "Caroline"^^ . "Graff"^^ . "Caroline Graff"^^ . . "Agustín"^^ . "Ruiz"^^ . "Agustín Ruiz"^^ . . "Matt"^^ . "Baker"^^ . "Matt Baker"^^ . . "Elise G P"^^ . "Dopper"^^ . "Elise G P Dopper"^^ . . "Christer"^^ . "Nilsson"^^ . "Christer Nilsson"^^ . . "Nigel J"^^ . "Cairns"^^ . "Nigel J Cairns"^^ . . "Roberta"^^ . "Ghidoni"^^ . "Roberta Ghidoni"^^ . . "Adeline"^^ . "Rollin"^^ . "Adeline Rollin"^^ . . "Janine"^^ . "Diehl-Schmid"^^ . "Janine Diehl-Schmid"^^ . . "Parastoo"^^ . "Momeni"^^ . "Parastoo Momeni"^^ . . "Isabel"^^ . "Hernández"^^ . "Isabel Hernández"^^ . . "Didier"^^ . "Hannequin"^^ . "Didier Hannequin"^^ . . "Benedetta"^^ . "Nacmias"^^ . "Benedetta Nacmias"^^ . . "Stuart"^^ . "Pickering-Brown"^^ . "Stuart Pickering-Brown"^^ . . "Johannes C M"^^ . "Schlachetzki"^^ . "Johannes C M Schlachetzki"^^ . . "Nick C"^^ . "Fox"^^ . "Nick C Fox"^^ . . "Rafael"^^ . "Blesa"^^ . "Rafael Blesa"^^ . . "Simon"^^ . "Mead"^^ . "Simon Mead"^^ . . "Giuliano"^^ . "Binetti"^^ . "Giuliano Binetti"^^ . . "Elizabeth"^^ . "Thompson"^^ . "Elizabeth Thompson"^^ . . "Stefano F"^^ . "Cappa"^^ . "Stefano F Cappa"^^ . . "Elena"^^ . "Alonso"^^ . "Elena Alonso"^^ . . "Giacomina"^^ . "Rossi"^^ . "Giacomina Rossi"^^ . . "Peter R"^^ . "Schofield"^^ . "Peter R Schofield"^^ . . "William W"^^ . "Seeley"^^ . "William W Seeley"^^ . . "Maria Elena"^^ . "Conidi"^^ . "Maria Elena Conidi"^^ . . "Huei-Hsin"^^ . "Chiang"^^ . "Huei-Hsin Chiang"^^ . . "Fabrizio"^^ . "Tagliavini"^^ . "Fabrizio Tagliavini"^^ . . "Carlos"^^ . "Cruchaga"^^ . "Carlos Cruchaga"^^ . . "Lena E"^^ . "Hjermind"^^ . "Lena E Hjermind"^^ . . "Murray"^^ . "Grossman"^^ . "Murray Grossman"^^ . . "Patrizia"^^ . "Rizzu"^^ . "Patrizia Rizzu"^^ . . "Karin"^^ . "Nilsson"^^ . "Karin Nilsson"^^ . . "Anna M"^^ . "Karydas"^^ . "Anna M Karydas"^^ . . "Ronald C"^^ . "Petersen"^^ . "Ronald C Petersen"^^ . . "Edward D"^^ . "Huey"^^ . "Edward D Huey"^^ . . "David M A"^^ . "Mann"^^ . "David M A Mann"^^ . . "Isabelle Le"^^ . "Ber"^^ . "Isabelle Le Ber"^^ . . "Glenda M"^^ . "Halliday"^^ . "Glenda M Halliday"^^ . . "Robert"^^ . "Perneczky"^^ . "Robert Perneczky"^^ . . "Olivier"^^ . "Piguet"^^ . "Olivier Piguet"^^ . . "Sabrina"^^ . "Pichler"^^ . "Sabrina Pichler"^^ . . "Sara"^^ . "Rollinson"^^ . "Sara Rollinson"^^ . . "Alberto"^^ . "Lleó"^^ . "Alberto Lleó"^^ . . "Lorenzo"^^ . "Pinessi"^^ . "Lorenzo Pinessi"^^ . . "Dena G"^^ . "Hernandez"^^ . "Dena G Hernandez"^^ . . "Eric"^^ . "Haan"^^ . "Eric Haan"^^ . . "Carol"^^ . "Dobson-Stone"^^ . "Carol Dobson-Stone"^^ . . "Dimitrios"^^ . "Kapogiannis"^^ . "Dimitrios Kapogiannis"^^ . . "Francesca"^^ . "Frangipane"^^ . "Francesca Frangipane"^^ . . "Huw R"^^ . "Morris"^^ . "Huw R Morris"^^ . . "John Q"^^ . "Trojanowski"^^ . "John Q Trojanowski"^^ . . "Maura"^^ . "Gallo"^^ . "Maura Gallo"^^ . . "Jordi"^^ . "Clarimón"^^ . "Jordi Clarimón"^^ . . "Luigi"^^ . "Ferrucci"^^ . "Luigi Ferrucci"^^ . . "James"^^ . "Uphill"^^ . "James Uphill"^^ . . "David"^^ . "Knopman"^^ . "David Knopman"^^ . . "Lauren"^^ . "Bartley"^^ . "Lauren Bartley"^^ . . "Maria"^^ . "Anfossi"^^ . "Maria Anfossi"^^ . . "Timothy D"^^ . "Griffiths"^^ . "Timothy D Griffiths"^^ . . "Sandro"^^ . "Sorbi"^^ . "Sandro Sorbi"^^ . . "Alan J"^^ . "Thomas"^^ . "Alan J Thomas"^^ . . "Paolo"^^ . "Sorrentino"^^ . "Paolo Sorrentino"^^ . . "Rosa"^^ . "Capozzo"^^ . "Rosa Capozzo"^^ . . "Alexander"^^ . "Gerhard"^^ . "Alexander Gerhard"^^ . . "Valeria"^^ . "Novelli"^^ . "Valeria Novelli"^^ . . "Ian R A"^^ . "Mackenzie"^^ . "Ian R A Mackenzie"^^ . . "Daniela"^^ . "Galimberti"^^ . "Daniela Galimberti"^^ . . "Elisa"^^ . "Rubino"^^ . "Elisa Rubino"^^ . . "Adaikalavan"^^ . "Ramasamy"^^ . "Adaikalavan Ramasamy"^^ . . "Gilles"^^ . "Gasparoni"^^ . "Gilles Gasparoni"^^ . . "Christine Van"^^ . "Broeckhoven"^^ . "Christine Van Broeckhoven"^^ . . "Martine"^^ . "Vercelletto"^^ . "Martine Vercelletto"^^ . . "Barbara"^^ . "Borroni"^^ . "Barbara Borroni"^^ . . "Johannes"^^ . "Attems"^^ . "Johannes Attems"^^ . . "Maria Grazia"^^ . "Spillantini"^^ . "Maria Grazia Spillantini"^^ . . "Jordan"^^ . "Grafman"^^ . "Jordan Grafman"^^ . . "Michael C."^^ . "Tierney"^^ . "Michael C. Tierney"^^ . . "Alexander"^^ . "Kurz"^^ . "Alexander Kurz"^^ . . "Michael A"^^ . "Nalls"^^ . "Michael A Nalls"^^ . . "Peter St"^^ . "George-Hyslop"^^ . "Peter St George-Hyslop"^^ . . "Massimo"^^ . "Franceschi"^^ . "Massimo Franceschi"^^ . . "Florence"^^ . "Lebert"^^ . "Florence Lebert"^^ . . "Maria"^^ . "Serpente"^^ . "Maria Serpente"^^ . . "Giancarlo"^^ . "Logroscino"^^ . "Giancarlo Logroscino"^^ . . "Harro"^^ . "Seelaar"^^ . "Harro Seelaar"^^ . . "Christopher M"^^ . "Morris"^^ . "Christopher M Morris"^^ . . "Mercè"^^ . "Boada"^^ . "Mercè Boada"^^ . . "Philip"^^ . "Scheltens"^^ . "Philip Scheltens"^^ . . "Rosa"^^ . "Rademakers"^^ . "Rosa Rademakers"^^ . . "Florence"^^ . "Pasquier"^^ . "Florence Pasquier"^^ . . "Livia"^^ . "Bernardi"^^ . "Livia Bernardi"^^ . . "Innocenzo"^^ . "Rainero"^^ . "Innocenzo Rainero"^^ . . "Alfredo"^^ . "Postiglione"^^ . "Alfredo Postiglione"^^ . . "John"^^ . "Collinge"^^ . "John Collinge"^^ . . "William"^^ . "Deschamps"^^ . "William Deschamps"^^ . . "Julie"^^ . "van der Zee"^^ . "Julie van der Zee"^^ . . "Maria Landqvist"^^ . "Waldö"^^ . "Maria Landqvist Waldö"^^ . . "Ekaterina"^^ . "Rogaeva"^^ . "Ekaterina Rogaeva"^^ . . "John C"^^ . "van Swieten"^^ . "John C van Swieten"^^ . . "Howard"^^ . "Rosen"^^ . "Howard Rosen"^^ . . "Eric M."^^ . "Wassermann"^^ . "Eric M. Wassermann"^^ . . "Amalia C"^^ . "Bruni"^^ . "Amalia C Bruni"^^ . . "James B"^^ . "Rowe"^^ . "James B Rowe"^^ . . "Giorgio"^^ . "Giaccone"^^ . "Giorgio Giaccone"^^ . . "Bruce L"^^ . "Miller"^^ . "Bruce L Miller"^^ . . "Atik"^^ . "Baborie"^^ . "Atik Baborie"^^ . . "Dennis W"^^ . "Dickson"^^ . "Dennis W Dickson"^^ . . "Joseph E"^^ . "Parisi"^^ . "Joseph E Parisi"^^ . . "Yolande A L"^^ . "Pijnenburg"^^ . "Yolande A L Pijnenburg"^^ . . "Nicoletta"^^ . "Smirne"^^ . "Nicoletta Smirne"^^ . . "Keith A"^^ . "Josephs"^^ . "Keith A Josephs"^^ . . "Raffaele"^^ . "Maletta"^^ . "Raffaele Maletta"^^ . . "Pau"^^ . "Pastor"^^ . "Pau Pastor"^^ . . "Evelyn"^^ . "Jaros"^^ . "Evelyn Jaros"^^ . . "Annibale A"^^ . "Puca"^^ . "Annibale A Puca"^^ . . "Julie S"^^ . "Snowden"^^ . "Julie S Snowden"^^ . . "Neill R."^^ . "Graff-Radford"^^ . "Neill R. Graff-Radford"^^ . . "Vincent"^^ . "Deramecourt"^^ . "Vincent Deramecourt"^^ . . "Andrew B"^^ . "Singleton"^^ . "Andrew B Singleton"^^ . . "Anna"^^ . "Richardson"^^ . "Anna Richardson"^^ . . "Silvia"^^ . "Bagnoli"^^ . "Silvia Bagnoli"^^ . . "Bradley F"^^ . "Boeve"^^ . "Bradley F Boeve"^^ . . "Sara"^^ . "Ortega-Cubero"^^ . "Sara Ortega-Cubero"^^ . . "Véronique"^^ . "Golfier"^^ . "Véronique Golfier"^^ . . "Jason D"^^ . "Warren"^^ . "Jason D Warren"^^ . . "Manuel"^^ . "Mayhaus"^^ . "Manuel Mayhaus"^^ . . "Raffaele"^^ . "Ferrari"^^ . "Raffaele Ferrari"^^ . . "Irene"^^ . "Piaceri"^^ . "Irene Piaceri"^^ . . "Adrian"^^ . "Danek"^^ . "Adrian Danek"^^ . . "Tim Van"^^ . "Langenhove"^^ . "Tim Van Langenhove"^^ . . "Chiara"^^ . "Cupidi"^^ . "Chiara Cupidi"^^ . . "Mark"^^ . "Kristiansen"^^ . "Mark Kristiansen"^^ . . . . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (PDF)"^^ . . . . . "nihms599470.pdf"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "lightbox.jpg"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "preview.jpg"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "medium.jpg"^^ . . . "Frontotemporal dementia and its subtypes: a genome-wide association study (Other)"^^ . . . . . . "small.jpg"^^ . . "HTML Summary of #2875 \n\nFrontotemporal dementia and its subtypes: a genome-wide association study\n\n" . "text/html" . . . "RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry"@en . .